Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
109 Cards in this Set
- Front
- Back
Limb buds visualized around ___ weeks |
8 weeks |
|
Define Epiphyses |
Secondary ossification centers that are separated from the shaft of the long bone by a layer of cartilage |
|
Distal femoral epiphyses are visible by __-__ weeks. Proximal tibial epiphyses are visible by __-__ weeks. |
32-35 weeks 34-35 weeks |
|
Ulna vs Radius sides: |
Ulna = Pinky finger side Radius = Thumb side |
|
Tibia vs Fibula: |
Tibia is thicker & more ant |
|
Suspicion for dysplasia when... |
> 2 standard deviations |
|
Rhizomelia |
Shortening of prox portion of the bone segment (femur, humorous) |
|
Mesomelia |
Shortening of the middle segments (radius/ulna, tib/fib) |
|
Micromelia |
Shortening of entire limb |
|
Most Common Lethal Skeletal Dysplasia? |
Thantophoric Dysplasia: "death producing" |
|
Thantophoric Dysplasia: Male vs Female? |
Males more common |
|
Thantophoric Dysplasia: How many types & which MC?
|
2 types, type I MC |
|
Thantophoric Dysplasia: Type I
|
MC, short curved femurs and flat vertebral bodies "Telephone Receiver" appearance of long bones |
|
Thantophoric Dysplasia: Type II
|
Straight short femurs, taller vertebral bodies, cloverleaf skull |
|
Kleeblattschadel associated with : |
Cloverleaf skull |
|
U/S findings with Thantophoric Dysplasia: |
Micromelia Curved/ bowed long bones Hypo mineralization of bones Narrow thorax : "champagne cork" Frontal bossing Macrocephaly Polyhydraminos |
|
Most Common non-lethal skeletal dysplasia: |
Achondroplasia |
|
Achondroplasia: Causes/Risks |
Autosomal dominant/ spontaneous gene mutaiton Advanced paternal age |
|
Describe Heterozygous Achondroplasia |
Good survival rate, normal intelligence, neurological complicaitons |
|
Describe Homozygous Achondroplasia |
(Rare) Lethal d/t pulmonary hypoplasia |
|
U/S findings of Achondroplasia |
May not be seen > 22 weeks Rhizomelia Macrocephaly Trident hands Depressed nasal bridge Frontal bossing Mild ventriculomegaly |
|
Describe Achondrogenesis |
Cartilage abnormalities= abnormal bone formation d/t hypo mineralization May develop hydrops |
|
Achondrogenesis: Type I (aka)
|
(AKA: Parenti-Fraccaro) More severe Autosomal recessive Extreme micromelia, frontal bossing, short & thin ribs that may fracture and poor ossification of skull, spine & pelvis |
|
Achondrogenesis: Type II (aka)
|
(AKA: Langer-Saldino) Less severe Autosomal dominant Frontal bossing, Flat face w/ micrognathia, absence of rib fractures |
|
Describe Short Rib Polydactyly: |
Lethal, autosomal recessive Short ribs & limbs w/ polydactyly 3 Types |
|
Short Rib Polydactyly: Type I
|
Saldino-Noonan not associated w/ cleft lip or palate |
|
Short Rib Polydactyly: Type II
|
Majewski Syndrome |
|
Short Rib Polydactyly: Type III
|
Naumoff Syndrome not associated w/ cleft lip/palate |
|
Findings of Short Rib Polydactyly: |
Narrow thorax Hypomineralizaton Short ribs Polydactyly/ Syndactyly Micromelia Midline facial defects (cleft lip/palate) |
|
Describe Asphyxiating Thoracic Dysplasia (aka) |
(AKA: Jeune's Syndrome) Rare, autosomal recessive Extremely narrow thorax Rhizomelia Polydactyly Pelvic & renal anomalies |
|
Describe: Ellis-Van Creveld Syndrome (aka) |
(AKA: Chondroectodermal dysplasia) Rare, autosomal recessive AMISH COMMUNITY |
|
Findings of Ellis-Van Creveld Syndrome
|
ASD Short limbs/ ribs narrow thorax polydactyly Dysplastic nails & teeth, thin hair Abnormalities of upper lip |
|
OI type I |
Mild, unlikely to Ddx in utero Autosomal Dominant. Limb bowing (Fractures after birth), normal stature |
|
OI Type II |
MOST SEVERE: LETHAL Autosomal Recessive, dominant or spontaneous Reduced echogenicity of long bones (transparent bone sign) Multiple in utero fractures |
|
OI type III |
Severe Dominant or recessive Deformities of long bones & spine |
|
OI Type IV |
MILDEST FORM Multiple fractures Short Stature |
|
Describe Campomelic Dysplasia |
Rare, Autosomal dominant Short & bowed long bones Short trunk, bell shaped chest |
|
Describe Hypophosphatasia: |
Diffuse hypo mineralization d/t alkaline phosphate deficiency Inherited: Autosomal dom or recess LETHAL |
|
Findings of Hypophosphatasia:
|
Mod- sev Micromelia Fractured/ bowed/ absent extremeties Poor ossification of cranium, supervis of brain Small thoracic cavity |
|
Describe Diastrophic Dysplasia |
Rare, Autosomal Recessive Micrognathia, kyphoscoliosis Variable prognosis Adults < 4 feet Micromelia, club feet, cleft palate, short stature, earlobe deformities, hand abnormalities |
|
Describe Roberts Syndrome (aka) |
(AKA: Pseudothalidomide Syndrome) Rare, Autosomal recessive Poor prognosis |
|
Findings of Roberts Syndrome |
Phocomelia: Hands/feet attach to body by a short, flipper like stump
B/L cleft lip & palate Hypertelorism Microcephaly Growth restriction, mental retardation |
|
Describe Caudal Regression |
SIRENOMELIA Malformation of the caudal end of the neural tube |
|
Caudal Regression: causes/risks |
Uncontrolled diabete, single umbilical artery |
|
Describe Sirenomelia |
Most severe form of caudal regression Fusion of lower extremities Renal anomalies oligo & pulm hypoplasia single umbilical A |
|
Findings of Arthrogryposis Multiplex Congenita |
Abnormal nerve innervations as well as disorders of the muscles and connective tissue SEVERE CONTRACTURES - stiffness Rigid extremities, flexed arms, hypertension of knees, clinched hands, club foot |
|
Describe Lethal Multiple Plerygioum Syndrome |
Autosomal Recessive Webbing across joints & multiple contractures |
|
Associated findings of Lethal Multiple Plerygioum Syndrome |
Cystic hygroma, micrognathia, polyhydraminos |
|
Describe Pena-Shokeir Syndrome |
Abnormal joint contractures, facial abnormalities, polyhydraminos, IGUR, & pulmonary hypoplasia Assoc w/ Trisomy 18 & Rocker bottom feet |
|
Amelia |
Absence of 1 or more limbs |
|
Aplasia |
Absence of bone |
|
Acheiria |
Absence of 1 or both hands |
|
Apodia |
Absence of 1 or both feet |
|
Adactyly |
Absence of 1 or more digits: hands or feet |
|
Hemimelia |
Absence of 1 or more extremities below the elbow or knee |
|
Hypoplasia |
Incomplete development of the bone |
|
Meromelia |
Absence of part of a limb |
|
Phocomlia |
Absence of prox portion of extremity w/ hand or foot attached to trunk |
|
Polydactyly |
Extra digits |
|
Syndactyly |
Fused digits |
|
Clinodactyly |
Overlapping digits |
|
Ectrodactyly |
Lobster claw anomaly, cleft hand, split hand anomaly Deficiency of central digits of the hand/foot giving the appearance of a "claw-like" conformation |
|
Most Common hand anomaly: |
Polydactyly |
|
Describe Pre-axial Polydactyly |
Located on radial (thumb) side of hand |
|
Describe Post-axial Polydactyly
|
MC- Located on the ulnar (pinky) side of hand |
|
Describe Central Polydactyly
|
Affects the three central digits |
|
Sandal Gap anomaly assoc w/ |
T21 |
|
Describe Rocker bottom feet : Assoc w/ |
Prominent heel & convex sole assoc w/ T18 |
|
Describe Club Foot (aka) & assoc w/: |
(AKA: Talipes) Foot line in same plane as lower leg Assoc w/ chromosomal anomalies/ syndromes, MSK disorders, SPINA BIFIDA, Oligo, & multiple gestations |
|
What gestational age should you mean Long bones? |
12 weeks |
|
Growth that is > 90th % for established GA termed: |
Macrosomia |
|
Growth that meas <10th % is termed : |
IGUR |
|
Fetal growth can be meas as often as ____ or as clinically indicated |
Every 2 weeks |
|
Risk factors for IUGR |
Maternal HTN, smoking, Uterine anomalies, large fibroids, placental insufficiency and hemorrhage |
|
Possible causes of Symmetric IUGR |
Genetic growth pattern, Intrauterine infection, severe maternal malnutrition, fetal alcohol syndrome, chromosomal anomaly, severe congenital anomaly |
|
What is the brain sparing affect? |
Asymmetric IGUR
- Appropriate HC and BPD, but disproportionate AC |
|
What is the more common form of IUGR? |
Asymmetric |
|
Possible causes of Asymmetric IUGR: |
*Placental Insufficiency* caused by severe maternal diabetes, chronic HTN, cardiac/renal disease, abruption, multiple gestation, smoking/drugs. |
|
Helpful measurements to determine IUGR: |
AC or HC/AC ratio: increases w/ IUGR |
|
Noninvasive ultrasound exam that predicts the presence or absence of fetal asphyxia and risk of fetal death in antenatal period. |
BPP |
|
Noninvasive test that monitors the fetal heart rate and uterine contractions and is used to evaluate fetal well-being |
NST |
|
Requirements for full points on BPP: |
8 pts possible points: 2pts : Gross body movement (3 fetal movements in 30 min) 2pts : Tone (1 felx/extension in 30 min) 2pts: Breathing (30 sec in 30 min) 2pts: AFV (min of 2cm x 2cm) |
|
Describe an Acceleration in a NST |
Rise in FHR that peaks at least 15 bmp above baseline & lasts for at least 15 sec |
|
Describe a Reactive NST |
2 accelerations in up to a 40 min period GOOD |
|
Describe a Non-Reactive NST |
Less than 2 accelerations in up to a 40 min period, a flat tracing or consistent decrease in the FHR |
|
When do Decelerations in a NST become an increased risk for fetal death |
Decels last longer than 60 sec and are repetitive |
|
What Gest Age mes AFI? |
24-26 weeks |
|
AFI Parameters: WNL |
5cm - 24cm |
|
AFI Parameters: Oligiohydraminos
|
Total AFI < 5cm and LVP = 2cm |
|
AFI Parameters: Polyhydraminos
|
Aka Hydraminos Total AFI > 24cm and LVP of >/= 8 cm |
|
What are the components of an APGAR test |
Activity Pulse Grimace (Reflex) Appearance Respiration |
|
APGAR scores: Normal = Fairly low = Critically low = |
Norm: Above 7 Fairly low: 4-6 Critically low: Below 3 |
|
AFI/NST/BPP are most commonly scheduled for _____ time periods |
Twice weekly testing |
|
What is importance of MCA Doppler? What does it show? |
Predicts presence of fetal anemia and IUGR Higher MCA = more risk for anemia |
|
What will MCA Dp show w/ IUGR |
- Decrease in cerebral resistance - Low S/D ratios - Decreased PI |
|
What is the importance of Uterine Artery Doppler? What does it tell us? |
Asses risk for Preeclampsia High Resistance Index & notching may indicate risk for Preeclampsia & adverse pregnancy outcome |
|
S/D ratio of Uterine Artery should be less than ____ |
2.6 |
|
What is the importance of Umbilical Artery Doppler? What does it tell us?
|
Increased S/D ratio indicates incr vas resistance = IUGR |
|
What classifies as an abnormal Umbilical A Dp? |
End Diastolic flow that is intermittently Absent, Absent, or Reversed *Absent/ Reversed = high morality rate |
|
Rule of thumb for abnormal S/D ratio of Umbilical A Dp |
S/D ratio > 3.0 after 30 weeks = ABNORMAL! |
|
Describe the Ductus Venosus |
Narrow, trumpet-shaped vessel in the fetal liver Connects the Umbilical vein to the IVC |
|
What is an abnormal Ductus Venosus Dpl? What does it indicate?
|
Reversal = Abnormal Indicates incr placental resistance in severe IGUR, or cardiac output abnormalities w/ structure cardiac dis |
|
What does the transparent bone sign? What is it associated with? |
Reduced echogenicity of Long bones Osteogenesis Imperfecta Type II |
|
Most Common Type of Thantophoric Dysplasia |
Type I |
|
Most Severe Type of Achondrogenesis
|
Type I |
|
Which disorders display a compressible calvarium: |
OI or Hypophosphatasia |
|
Which disorders have a Good survival rate? |
Achondroplasia (heterozygous) Ellis-Van Creveld Syndrome |
|
Types of Achondrogenesis & Akas |
Penny Feels Little Sometimes Type I : Parenti-Fraccaro = Rib fractures Type II : Langer Saldino |
|
Types of Short Rib Polydactyly & Akas |
Salads Never Make News Type I : Saldino Noonan = no clefts Type II : Majewski Type III : Naumoff = no clefts |